Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical mem...[+]

Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. [-]

             autosomal recessive pseudohypoaldosteronism type 1
             Liddle syndrome

          BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2; BESC2
          PSEUDOHYPOALDOSTERONISM, TYPE IB1, AUTOSOMAL RECESSIVE; PHA1B1

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD